Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs281875169
rs281875169
1.000 0.120 11 57600336 missense variant C/T snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014